ClinVar Miner

List of variants in gene CBS reported as uncertain significance for Homocystinuria due to CBS deficiency

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Total variants: 90
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HGVS dbSNP
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053860)_(43072213_?)dup
NM_000071.2(CBS):c.*19G>A rs1555869794
NM_000071.2(CBS):c.*19G>C rs1555869794
NM_000071.2(CBS):c.*20T>C rs1555869789
NM_000071.2(CBS):c.*540G>A rs111386779
NM_000071.2(CBS):c.-86_-85+13delAGGTGAGATCCGGCCinsTGAAGGGTACCGCGA
NM_000071.2(CBS):c.1040-6C>G rs767372401
NM_000071.2(CBS):c.1061_1069del9 (p.Val354_Val356del) rs863223436
NM_000071.2(CBS):c.1070C>G (p.Ala357Gly) rs863223437
NM_000071.2(CBS):c.1072G>A (p.Val358Met) rs148589243
NM_000071.2(CBS):c.1080_1081delCGinsTA (p.Ala361Thr) rs1555873407
NM_000071.2(CBS):c.1082C>T (p.Ala361Val) rs370851632
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1106G>A (p.Arg369His)
NM_000071.2(CBS):c.1148C>T (p.Thr383Ile)
NM_000071.2(CBS):c.1205T>C (p.Leu402Pro) rs371214833
NM_000071.2(CBS):c.1210_1212delGAG (p.Glu404del) rs1555872822
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1273G>A (p.Val425Met) rs138211175
NM_000071.2(CBS):c.1301C>A (p.Thr434Asn) rs1555872506
NM_000071.2(CBS):c.1304T>C (p.Ile435Thr) rs1282119406
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1337C>T (p.Ala446Val)
NM_000071.2(CBS):c.134G>A (p.Arg45Gln) rs759502207
NM_000071.2(CBS):c.1353G>C (p.Glu451Asp) rs367962613
NM_000071.2(CBS):c.1379C>T (p.Thr460Met)
NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) rs121964971
NM_000071.2(CBS):c.1411G>A (p.Gly471Arg) rs201098477
NM_000071.2(CBS):c.1451A>G (p.Tyr484Cys) rs1555871913
NM_000071.2(CBS):c.1451A>T (p.Tyr484Phe) rs1555871913
NM_000071.2(CBS):c.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1525G>A (p.Ala509Thr) rs1060500680
NM_000071.2(CBS):c.1551G>A (p.Gln517=)
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.155G>A (p.Cys52Tyr) rs779777933
NM_000071.2(CBS):c.1594G>A (p.Gly532Arg) rs748953468
NM_000071.2(CBS):c.1597G>T (p.Val533Leu)
NM_000071.2(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.2(CBS):c.209+5G>C rs1555876750
NM_000071.2(CBS):c.209C>T (p.Pro70Leu) rs2229413
NM_000071.2(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.2(CBS):c.296T>A (p.Phe99Tyr) rs112029370
NM_000071.2(CBS):c.297C>G (p.Phe99Leu) rs749697783
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.2(CBS):c.393G>C (p.Glu131Asp) rs1555875351
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.395G>A (p.Arg132His) rs779011920
NM_000071.2(CBS):c.400G>A (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.400G>C (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.404C>T (p.Thr135Met) rs144832032
NM_000071.2(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.2(CBS):c.451G>T (p.Gly151Trp)
NM_000071.2(CBS):c.457G>A (p.Gly153Arg)
NM_000071.2(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.2(CBS):c.493T>G (p.Cys165Gly)
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.536_553del18 (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.539T>C (p.Val180Ala) rs1555875010
NM_000071.2(CBS):c.548C>T (p.Ala183Val) rs374464810
NM_000071.2(CBS):c.588G>C (p.Arg196Ser)
NM_000071.2(CBS):c.616G>A (p.Val206Met) rs369220569
NM_000071.2(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.2(CBS):c.650C>T (p.Ser217Phe) rs1555874874
NM_000071.2(CBS):c.65A>G (p.His22Arg) rs763151207
NM_000071.2(CBS):c.664C>T (p.Gln222Ter)
NM_000071.2(CBS):c.667-10_667-7delTTCT rs376011228
NM_000071.2(CBS):c.667-14_667-7del8 rs764160782
NM_000071.2(CBS):c.670C>T (p.Arg224Cys) rs139456571
NM_000071.2(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.2(CBS):c.710C>T (p.Ala237Val)
NM_000071.2(CBS):c.745G>A (p.Asp249Asn)
NM_000071.2(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.2(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.2(CBS):c.766G>A (p.Gly256Ser)
NM_000071.2(CBS):c.775G>A (p.Gly259Ser) rs143124288
NM_000071.2(CBS):c.829-11G>T rs371619788
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
NM_000071.2(CBS):c.847G>A (p.Glu283Lys)
NM_000071.2(CBS):c.856A>G (p.Ile286Val) rs147040567
NM_000071.2(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.2(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000071.2(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.2(CBS):c.953C>T (p.Thr318Met) rs769541394
NM_000071.2(CBS):c.954+5G>T
NM_000071.2(CBS):c.982G>A (p.Asp328Asn) rs758447354

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